Ap5z1/spg48 frequency in autosomal recessive and sporadic spastic paraplegia

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 5, 2014, Pages 379-382

  Schlipf, Nina A ^a,b   Schule, Rebecca ^c   Klimpe, Sven ^d   Karle, Kathrin N ^c,e   Synofzik, Matthis ^c,e   Wolf, Julia ^c,e   Riess, Olaf ^a   Schols, Ludger ^c,e   Bauer, Peter ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

AP5Z1; Hereditary spastic paraplegia; SPG48; Targeted next generation sequencing

Indexed keywords

EID: 85017730842     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.87     Document Type: Note

References (5)

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4. Slabicki, M., M. Theis, D. B. Krastev, S. Samsonov, E. Mundwiller, M. Junqueira, et al. 2010. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 8: e1000408.
5. Stevanin, G., F. M. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. S. Denora, et al. 2007. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat. Genet. 39:366–372.